Browsing by Subject "natriuretic peptide receptor-B"

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    • Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature 
      Wang, Sophie; Jacobsen, Christina; Carmichael, Heather; Edmund, Aaron; Robinson, Jerid; Olney, Robert; Miller, Timothy C.; Moon, Jennifer E.; Mericq, Verónica; Potter, Lincoln R.; Warman, Matthew L.; Hirschhorn, Joel N.; Dauber, Andrew (Wiley, 2015)
      Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene ...